Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001045973 | SCV001209851 | likely benign | Familial aplasia of the vermis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001546265 | SCV001765757 | uncertain significance | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |